Associated Papers
Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.
Su L et al.
Metabolic Brain Disease, 2017
Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β.
Bashyam MD et al.
Journal of Cellular Biochemistry, 2012
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